RT Journal Article
SR Electronic
T1 Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 212
OP 216
DO 10.1136/adc.57.3.212
VO 57
IS 3
A1 L Stankler
A1 D Lloyd
A1 R J Pollitt
A1 E S Gray
A1 H Thom
A1 G Russell
YR 1982
UL http://adc.bmj.com/content/57/3/212.abstract
AB A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on scanning electron microscopical examination; this fact and the clinical picture probably represents a new syndrome.